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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:CD40 ligand deficiency
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Accession:DOID:0060022 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)
Synonyms:exact_synonym: HIGM1;   HIGM1 syndrome;   HIGM1 syndromes;   HIGMX-1;   Hyper IgM Syndrome 1;   IHIS;   IMD3;   IMMUNODEFICIENCY 3;   Immunodeficiency with Hyper IgM, Type 1;   X-linked hyper-IgM immunodeficiencies;   X-linked hyper-IgM immunodeficiency;   X-linked hyper-IgM syndrome;   X-linked hyper-immunoglobulin M (IgM) syndrome;   XHIGM;   XHIM;   hyper-IgM immunodeficiency syndrome, type 1
 primary_id: MESH:D053307
 alt_id: OMIM:308230
For additional species annotation, visit the Alliance of Genome Resources.


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CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO OMIM
RGD
PMID:21841160 RGD:5490298 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chrNW_004936809:1,280,254...1,306,964 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12792
    syndrome 6488
      primary immunodeficiency disease 1994
        B cell deficiency 171
          hyperimmunoglobulin syndrome 19
            CD40 ligand deficiency 3
              Ectodermal Dysplasia and Immunodeficiency 1 2
Path 2
Term Annotations click to browse term
  disease 12792
    disease of anatomical entity 12471
      Immune & Inflammatory Diseases 2922
        immune system disease 2465
          primary immunodeficiency disease 1994
            B cell deficiency 171
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    CD40 ligand deficiency 3
                      Ectodermal Dysplasia and Immunodeficiency 1 2
paths to the root